A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750961



Internal ID12637827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51966534..52250834hg38UCSC Ensembl
Innerchr10:53726294..54010594hg19UCSC Ensembl
Innerchr10:53396300..53680600hg18UCSC Ensembl
Innerchr10:53396300..53680600hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38284301
hg19284301
hg18284301
hg17284301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982575, essv6982574, essv6982572, essv6982573
SamplesBEC_568
Known GenesPRKG1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750961
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer